Table 3.
Clinicopathological data from the Australasian colorectal cancer family register cohort
| Sample ID | Age | Gender | IHC summary | MSI | Germline defect | RNF43 exon 3 (C6) | RNF43 exon 9 (G7) | RNF43 mutation |
|---|---|---|---|---|---|---|---|---|
| 1 | 72.0 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 2 | 32.2 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 3 | 34.3 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 4 | 49.1 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 5 | 80.1 | Female | PMS2 | High | PMS2 | Wild-type | Wild-type | Wild-type |
| 6 | 52.3 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 7 | 60.9 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 8 | 64.1 | Male | MSH6 | High | MSH6 | Wild-type | X659 | Positive |
| 9 | 30.9 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 10 | 55.1 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 11 | 53.5 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 12 | 32.3 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 13 | 51.9 | Female | MSH2/MSH6 | High | MSH2 | X117 | Wild-type | Positive |
| 14 | 28.7 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 15 | 32.9 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 16 | 37.2 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 17 | 52.0 | Female | MSH6 | High | MSH6 | Wild-type | Wild-type | Wild-type |
| 18 | 45.6 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 19 | 59.5 | Male | PMS2 | High | PMS2 | Wild-type | Wild-type | Wild-type |
| 20 | 61.8 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 21 | 40.0 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 22 | 54.8 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 23 | 50.3 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 24 | 33.3 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 25 | 56.1 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 26 | 46.0 | Male | MSH2/MSH6 | NA | MSH2 | Wild-type | Wild-type | Wild-type |
| 27 | 47.3 | Female | MLH1/PMS2 | NA | MLH1 | X117 | Wild-type | Positive |
| 28 | 49.7 | Male | PMS2 | NA | PMS2 | Wild-type | Wild-type | Wild-type |
| 29 | 33.2 | Female | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 30 | 59.2 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 31 | 64.5 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 32 | 52.6 | Male | MLH1/PMS2 | NA | MLH1 | Wild-type | X659 | Positive |
| 33 | 34.4 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 34 | 63.8 | Male | MSH6 | NA | MSH6 | Wild-type | Wild-type | Wild-type |
| 35 | 50.0 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 36 | 43.8 | Male | MSH2/MSH6 | High | MSH2 | Wild-type | Wild-type | Wild-type |
| 37 | 49.7 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | Wild-type | Wild-type |
| 38 | 45.1 | Male | MLH1/PMS2 | High | MLH1 | Wild-type | X659 | Positive |
| 39 | 49.0 | Female | MSH2/MSH6 | High | MSH2 | Wild-type | X659 | Positive |
| 40 | 58.4 | Female | MLH1/PMS2 | High | MLH1 | X117 | Wild-type | Positive |
| 41 | 51.8 | Male | MSH6 | NA | MSH6 | Wild-type | X659 | Positive |
| 42 | 55.8 | Female | PMS2 | NA | PMS2 | Wild-type | Wild-type | Wild-type |
| 43 | 52.1 | Male | PMS2 | NA | PMS2 | Wild-type | Wild-type | Wild-type |
| 44 | 75.6 | Male | MSH2/MSH6 | NA | MSH2 | Wild-type | Wild-type | Wild-type |